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CES5A carboxylesterase 5A [ Homo sapiens (human) ]

Gene ID: 221223, updated on 5-Mar-2024

Summary

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Official Symbol
CES5Aprovided by HGNC
Official Full Name
carboxylesterase 5Aprovided by HGNC
Primary source
HGNC:HGNC:26459
See related
Ensembl:ENSG00000159398 MIM:618678; AllianceGenome:HGNC:26459
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CES5; CES7; CAUXIN; CES4C1; HEL126
Summary
This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Expression
Biased expression in liver (RPKM 1.9), gall bladder (RPKM 0.7) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
16q12.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (55846154..55956031, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (61641137..61751051, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (55880066..55989943, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:55813055-55814254 Neighboring gene carboxylesterase 1 pseudogene 1 Neighboring gene carboxylesterase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr16:55972010-55972511 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43479 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43482 Neighboring gene uncharacterized LOC124903694 Neighboring gene MPRA-validated peak2606 silencer Neighboring gene uncharacterized LOC107984815

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mammalian carboxylesterase 5: comparative biochemistry and genomics. Holmes RS, et al. Comp Biochem Physiol Part D Genomics Proteomics, 2008 Sep. PMID 19727319, Free PMC Article
  2. Molecular cloning and characterization of a novel carboxylesterase-like protein that is physiologically present at high concentrations in the urine of domestic cats (Felis catus). Miyazaki M, et al. Biochem J, 2003 Feb 15. PMID 12401131, Free PMC Article
  3. A new class of mammalian carboxylesterase CES6. Holmes RS, et al. Comp Biochem Physiol Part D Genomics Proteomics, 2009 Sep. PMID 20161041, Free PMC Article
  4. Mammalian carboxylesterase 3: comparative genomics and proteomics. Holmes RS, et al. Genetica, 2010 Jul. PMID 20422440, Free PMC Article
  5. Recommended nomenclature for five mammalian carboxylesterase gene families: human, mouse, and rat genes and proteins. Holmes RS, et al. Mamm Genome, 2010 Oct. PMID 20931200, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • FLJ31547

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carboxylesterase activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
carboxylesterase 5A
Names
carboxylesterase 5
carboxylesterase 7
carboxylesterase-like urinary excreted protein homolog
epididymis luminal protein 126
NP_001137157.1
NP_001177087.1
NP_659461.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001143685.2 → NP_001137157.1  carboxylesterase 5A isoform 1 precursor

    See identical proteins and their annotated locations for NP_001137157.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has an alternate 5' sequence, as compared to variant 3. The resulting isoform (1) is shorter and has a different N-terminus, as compared to isoform 3.
    Source sequence(s)
    AC147362, AY907669, BC039073, BC069548, BC117126, DA698987
    Consensus CDS
    CCDS45490.1
    UniProtKB/Swiss-Prot
    B7Z252, B7ZLB6, Q6NT32, Q8NBC8, Q96DN9
    UniProtKB/TrEMBL
    A0A140TA61
    Related
    ENSP00000290567.9, ENST00000290567.14
    Conserved Domains (2) summary
    COG0657
    Location:126 → 229
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:27 → 539
    COesterase; Carboxylesterase family

  2. NM_001190158.1 → NP_001177087.1  carboxylesterase 5A isoform 3 precursor

    See identical proteins and their annotated locations for NP_001177087.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC007335, AC147362, AK294334
    Consensus CDS
    CCDS54012.1
    UniProtKB/TrEMBL
    A0A140TA75
    Related
    ENSP00000428864.1, ENST00000521992.5
    Conserved Domains (2) summary
    COG0657
    Location:155 → 258
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:56 → 568
    COesterase; Carboxylesterase family

  3. NM_145024.3 → NP_659461.1  carboxylesterase 5A isoform 2 precursor

    See identical proteins and their annotated locations for NP_659461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' sequence, and omits an in-frame exon in the 3' CDS, as compared to variant 3. The resulting isoform (2) is shorter; has a different N-terminus and lacks an internal segment, as compared to isoform 3.
    Source sequence(s)
    AC147362, AK056109, BC039073
    Consensus CDS
    CCDS10755.1
    UniProtKB/TrEMBL
    A0A140TA78, V9HWK3
    Related
    ENSP00000324271.9, ENST00000319165.13
    Conserved Domains (2) summary
    COG0657
    Location:126 → 229
    Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
    pfam00135
    Location:27 → 489
    COesterase; Carboxylesterase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    55846154..55956031 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315945.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    70051..179945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    61641137..61751051 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NT32.1 GenPept UniProtKB/Swiss-Prot:Q6NT32

Gene LinkOut

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